Typical and Atypical Associated Findings in a Group of 346 Patients with Mayer-Rokitansky-Kuester-Hauser Syndrome.

STUDY OBJECTIVE: The Mayer-Rokitansky-Kuester-Hauser (MRKH) syndrome is characterized by vaginal and uterine aplasia in a 46,XX individual. Multiple abnormalities may be associated with MRKH syndrome, and it appears to overlap other syndromes. The aim of this study was to describe the spectrum of associated malformations and syndromes as well as abnormal karyotypic findings in a large cohort of 346 patients. DESIGN, SETTING, AND PARTICIPANTS: The study is a retrospective analysis of 346 MRKH patients treated in the University Hospital in Tuebingen between 1998 and 2013. MAIN OUTCOME MEASURES: The dataset was screened for typical associated malformations as well as atypical malformations and abnormal karyotypes. A complete review of the literature was included. RESULTS: Among our cohort of 346 patients, we found that 53.2% had MRKH type 1, 41.3% had MRKH type 2, and 5.5% had MURCS syndrome. The group with associated malformations included 57.6% renal, 44.4% skeletal, and 30.8% other malformations. Additionally, we found 2 cases of absent radius syndrome, 3 cases of anal atresia, and 1 patient with oculodentodigital dysplasia, and other atypical malformations. Abnormal karyotypes were found in 5 cases, and 39 siblings and 11 parents had known malformations. CONCLUSIONS: This study supports the hypothesis that the syndrome has a multifactorial pathogenesis. With the high numbers of associated malformations reported in this study, patients with MRKH syndrome should be regarded as having a complex syndrome. Molecular-genetic analyses in larger numbers of children after surrogacy, twin pregnancies, and familial cases may make it possible to obtain further information about the etiology of the syndrome.

Laparoscopic Nerve-Preserving Colposacropexy for Surgical Management of Neovaginal Prolapse.

BACKGROUND: Neovaginal prolapse occurs rarely, and a standard treatment has not yet been defined. CASE: We report 2 cases of patients with vaginal agenesis with a symptomatic neovaginal prolapse; one occurring 25 years after self-dilation and another occurring 24 years after sigmoid vaginoplasty. At 48 and 18 months after surgical treatment with laparoscopic nerve-preserving colposacropexy using 2 types of mesh and 2 kinds of sutures to anchor the mesh at the neovaginal wall, both women are asymptomatic and highly satisfied with the result, without prolapse recurrence or mesh/suture erosion. SUMMARY AND CONCLUSION: For the surgical management of neovaginal prolapse after sigmoid vaginoplasty and vagina creation after self-dilation, we recommend the nerve-preserving sacrocolpopexy as a safe method to achieve durable functional outcomes and good anatomic vaginal level I and II support.

Heartbeat-related distension and displacement of the thoracic aorta in healthy volunteers.

PURPOSE: To test our hypothesis that distension and displacement in various segments of the healthy thoracic aorta are significant and can be predicted based on clinical characteristics. MATERIALS AND METHODS: Sixty-one Caucasian volunteers without cardiovascular disease (49 ± 16 years, range 19-82; 28 men, 33 women) divided into two age groups (A: <50, B: ≥ 50 years) underwent 1.5-T MRI. ECG-gated dynamic data sets were acquired at five locations perpendicular to the thoracic aorta. Aortic distension and Centre of Mass (CoM) displacement were determined as percentages of diastolic aortic diameter. A multiple linear regression model including age group, gender, location, mean arterial blood pressure, heart rate and body mass index was tested. RESULTS: Mean aortic distension averaged over all locations was 11.2 ± 4.1% (age group A) and 6.7 ± 3.3% (age group B), mean displacement 15.1 ± 8.3% (A) and 11.0 ± 6.2% (B). Systolic and diastolic aortic diameter and CoM position significantly differed at all locations (p<0.001). Distension and displacement could be predicted based on the regression model (p<0.001). Age group A and women exhibited significantly greater distension and displacement compared to age group B (p<0.001) and men (p<0.01), respectively. Distension increased, displacement decreased from proximal to distal. CONCLUSION: Distension and translational displacement are significant at all levels of the thoracic aorta and can be predicted based on clinical characteristics.

3-D quantification of the aortic arch morphology in 3-D CTA data for endovascular aortic repair.

We introduce a new model-based approach for the segmentation and quantification of the aortic arch morphology in 3-D computed tomography angiography (CTA) data for thoracic endovascular aortic repair (TEVAR). The approach is based on a model-fitting scheme using a 3-D analytic intensity model for thick vessels in conjunction with a two-step refinement procedure, and allows us to accurately quantify the morphology of the aortic arch. Based on the fitting results, we additionally compute the (local) 3-D vessel curvature and torsion as well as the relevant lengths not only along the 3-D centerline, but particularly also along the inner and outer contour. These measurements are important for preoperative planning in TEVAR applications. We have validated our approach based on 3-D synthetic as well as 3-D MR phantom images. Moreover, we have successfully applied our approach using 3-D CTA datasets of the human thorax and have compared the results with ground truth obtained by a radiologist. We have also performed a quantitative comparison with a commercial vascular analysis software.